NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) AND Pendred syndrome

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Sep 5, 2021
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000671237.7

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)]

NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)

Genes:

LOC123956210:Sharpr-MPRA regulatory region 3291 [Gene]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)

HGVS:

NC_000007.14:g.107710154G>T
NG_008489.1:g.54520G>T
NM_000441.2:c.2190G>TMANE SELECT
NP_000432.1:p.Gln730His
NC_000007.13:g.107350599G>T
NM_000441.1:c.2190G>T
c.2190G>T

Protein change:

Q730H

Links:

dbSNP: rs142723249

NCBI 1000 Genomes Browser:

rs142723249

Molecular consequence:

NM_000441.2:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pendred syndrome (PDS)
Synonyms:: DEAFNESS WITH GOITER; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

Recent activity

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Rattus norvegicus 5-azacytidine induced 2 (Azi2), mRNA
Rattus norvegicus 5-azacytidine induced 2 (Azi2), mRNA
gi|71043623|ref|NM_001025705.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796192	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 7, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21704276, 23965030 Citation Link,
SCV001137437	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001463984	Natera, Inc.	no assertion criteria provided	Likely benign (Jan 11, 2020)	germline	clinical testing
SCV002027473	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 5, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

Chen N, Tranebjærg L, Rendtorff ND, Schrijver I.

J Mol Diagn. 2011 Jul;13(4):416-26. doi: 10.1016/j.jmoldx.2011.03.003. Epub 2011 Apr 29.

PubMed [citation]

PMID:: 21704276
PMCID:: PMC3123795

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.

BMC Med Genet. 2013 Aug 21;14:85. doi: 10.1186/1471-2350-14-85.

PubMed [citation]

PMID:: 23965030
PMCID:: PMC3765178

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000796192.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001137437.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV001463984.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV002027473.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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